Genetics Genetics Research
CHROMOSOME 7 IKZF1 7p12.2 GENE VIEW IKZF1 · 7p12.2 7p13 7p11 rs4132601 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs4132601 T / G · IKZF1 · 7p12.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G T Thymine — reference allele G Guanine — variant allele genetics.jdge.cc

rs4132601

Gene: IKZF1 — IKAROS Family Zinc Finger 1 Chr 7:50402906 7p12.2 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.743236G 0.256764TT 0.554112TG/GT 0.378248GG 0.067639pop=765,206 ↬
African T 0.80468G 0.19532TT 0.647639TG/GT 0.314077GG 0.038284pop=67,130
African American T 0.80406G 0.19594TT 0.646828TG/GT 0.314472GG 0.0387pop=64,858
African Others T 0.8222G 0.1778TT 0.670775TG/GT 0.302817GG 0.026408pop=2,272
Asian T 0.89657G 0.10343TT 0.804579TG/GT 0.183975GG 0.011447pop=16,948
East Asian T 0.89675G 0.10325TT 0.80361TG/GT 0.186275GG 0.010115pop=12,852
European T 0.731719G 0.268281TT 0.535873TG/GT 0.391693GG 0.072434pop=612,802
Latin American 1 T 0.75253G 0.24747TT 0.566604TG/GT 0.371857GG 0.061538pop=10,660
Latin American 2 T 0.74675G 0.25325TT 0.560125TG/GT 0.373254GG 0.066621pop=20,474
Other T 0.76338G 0.23662TT 0.587094TG/GT 0.352578GG 0.060328pop=28,544
Other Asian T 0.896G 0.104TT 0.807617TG/GT 0.176758GG 0.015625pop=4,096
South Asian T 0.6957G 0.3043TT 0.491212TG/GT 0.408881GG 0.099907pop=8,648

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